Global Variome shared LOVD

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Phenotype #0000351336 Individual ID 00465936 Associated disease seizures Diagnosis/Initial Lennox-Gastaut syndrome Diagnosis/Definite DEDISB Phenotype details see paper; ..., 6m-seizures, infantile spasms; 3y-generalized convulsions, myoclonic seizures, tonic seizures, atonic seizures, global developmental delay, axial hypotonia, no speech, no meaningful vocalizations, unable to pull to stand, unable to support own weight; no dysmorphic features; EEG hypsarrhythmia, infantile spasms Inheritance Isolated (sporadic) Age/Examination 03y (3 years) Age/Diagnosis - Age/Onset 00y06m Phenotype/Onset seizures Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-06-19 11:24:43 +02:00 (CEST) Date last edited N/A

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